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Variable expression of naevoid basal cell carcinoma syndrome in a family with a novel mutation in the PTCH1 gene

✍ Scribed by J. Alonso-González; E. Gutiérrez-González; V. Fernández-Redondo; A. Vega-Gliemmo; J. Toribio


Book ID
108697085
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
342 KB
Volume
37
Category
Article
ISSN
0307-6938

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Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by multiple basal cell carcinomas, palmar and plantar pitting, odontogenic keratocysts of the jaws and bilamellar calcification of the falx. Mutations in the PTCH gene are responsible for NBCCS but most stud